Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome

Yazdanpanahi, Nasrin. and Tabatabaiefar, Mohammad Amin. and Farrokhi, Effat. and Abdian, Narges. and Bagheri, Nader. and Shahbazi, Shirin. and Noormohammadi, Zahra. and Hashemzadeh-Chaleshtori, Morteza. (2013) Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY, 6 (4). pp. 201-208.

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Abstract

Objectives. The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing lots, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. Methods. We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Ban province of Iran with no GJB2 mutations. Initially, linkage analysis was performed by four DFNB4 short tandem repeat markers. The result showed linkage to DFNB4 locus. Following that, DNA sequencing of all 21 exons, their adjacent intronic sequences and the promoter of SLC26A4 was carried out for mutation detection. Results. Two novel mutations (c.863-864insT and c.881-882delAC) were identified in exon 7 of the gene, in both homozygous and compound heterozygous state it patients. Conclusion. Our results supported the importance of the SLC26A4 mutations in the etiology of hearing loss among the Iranian patients and therefore its mutation screening should be considered after GJB2 in the molecular diagnostics of hearing loss, especially when enlarged vestibular aqueduct or goiter is detected.

Item Type: Article
Uncontrolled Keywords: Novel mutation; Compound heterozygosity; SLC26A4; Pendred syndrome; Healing loss; Linkage analysis; Iran
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zahra bagheri .
Date Deposited: 07 Aug 2017 07:53
Last Modified: 24 Apr 2018 09:16
URI: http://eprints.skums.ac.ir/id/eprint/2518

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